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Case Reports
. 2025 Sep;197(9):e64116.
doi: 10.1002/ajmg.a.64116. Epub 2025 May 12.

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights

Tinatin Tkemaladze  1   2 , Kakha Bregvadze  1 , Luka Abashishvili  1 , Gocha Chikvinidze  3 , Angelica Maria Delgado Vega  4 , Fizza Akbar  5 , Sara Khan  6 , Salman Kirmani  5
Affiliations
Case Reports

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights

Tinatin Tkemaladze et al. Am J Med Genet A. 2025 Sep.

Abstract

Pathogenic variants in IGHMBP2 have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autosomal Recessive Charcot-Marie-Tooth disease type 2S (AR-CMT2S), as well as a relatively wide spectrum of rare, atypical phenotypes. We describe clinical and molecular features of five patients who have diverse clinical findings associated with known and novel IGHMBP2 pathogenic variants. Genotype-phenotype correlations are evident, highlighting the association of specific variants with SMARD1 or AR-CMT2S. This study expands the spectrum of the IGHMBP2-related disease and highlights the necessity to study diverse populations to enhance diagnostic accuracy and refine genotype-phenotype correlations.

Keywords: IGHMBP2; AR‐CMT2S; Charcot–Marie–Tooth disease; SMARD1; spinal muscular atrophy.

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References

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